A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

Article, Other literature type English OPEN
Rivera, Andrea ; White, Karen ; Stöhr, Heidi ; Steiner, Klaus ; Hemmrich, Nadine ; Grimm, Timo ; Jurklies, Bernhard ; Lorenz, Birgit ; Scholl, Hendrik P.N. ; Apfelstedt-Sylla, Eckhart ; Weber, Bernhard H.F. (2000)
  • Publisher: Elsevier BV
  • Journal: The American Journal of Human Genetics, volume 67, issue 4, pages 800-813 (issn: 0002-9297)
  • Related identifiers: pmc: PMC1287885, doi: 10.1086/303090
  • Subject: Genetics(clinical) | Genetics | Articles

Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the photoreceptor-specific ATP-binding cassette (ABC) transporter (ABCA4). We have studied 144 patients with STGD and 22... View more
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